THE UNIVERSITY COURT OF THE UNIVERSITY OF GLASGOW;THE UNIVERSITY COURT OF THE UNIVERSITY OF EDINBURGH
发明人:
Adrian BIRD,Rebekah TILLOTSON,Stuart Robert COBB,Ralph David HECTOR
申请号：
US16497277
公开号：
US20200016279A1
申请日:
2018.03.23
申请国别(地区):
US
年份:
2020
代理人:
摘要：
The present invention provides nucleic acid molecules comprising a MeCP2 expression cassette, the expression cassette comprising, in operable linkage from 5′； to 3′；: a 5′； transcriptional control region comprising a promoter capable of driving transcription in neural cells； an open reading frame encoding a MeCP2 protein； translation control signals； a 3′； untranslated region (3′；UTR) comprising one or more of: (i) a binding site for mir-22； (ii) a binding site for mir-19； (iii) a binding site for miR-132； (iv) a binding site for miR124； and (v) an AU-rich element； and transcriptional termination signals； wherein the MeCP2 expression cassette is not more than about 5 kb in length. The invention further provides viral vectors, especially vectors derived from adeno-associated virus (AAV), for use in therapeutic delivery of such expression cassettes. The nucleic acid molecules and viral vectors disclosed herein provide novel tools for expressing MeCP2 and are of particular value in the treatment of disorders associated with reduced MeCP2 activity, including Rett syndrome.
